IthaMaps

Welcome to IthaMaps

IthaMaps is a global epidemiology database of heamoglobinopathies, illustrating published data on a dynamic global to regional map. Country-specific information on haemoglobinopathy-related policies, prevalence, incidence and overall disease burden is given, including relative allele frequencies of specific globin mutations in each country and/or region, dynamically linked to corresponding IthaGenes entries.

IthaMaps content was supported by partnership with the HVP Global Globin 2020 Challenge

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General information for India

India

Continent:	Asia
Capital:	New Delhi
Population:	1173108018
Area (in sq km):	3287590.0

Haemoglobinopathy-specific healthcare policy information for India

Healthcare policy		Comment/Info	Reference
Prevention programme:	Yes (Regional)	Haemoglobinopathy screening targets schoolchildren, college and university students, antenatal mothers, and high-risk tribal, ethnic, and caste groups, includes cascade screening.	[PMID: 29751732]
SCD newborn screening:	No	Several pilot regional studies.	[PMID: 33072952]
Prenatal screening:	Yes (Regional)		[PMID: 29751732]
Antenatal screening:	Yes (Regional)	Screening of women in antenatal clinics is being done at many centres but uptake is low, voluntary.	[PMID: 22089620]
Haemoglobinopathies patient registry:	Yes (Regional)	E.g. The Sickle Cell Disease Support Corner launched by the Ministry of Tribal Affairs to register tribal patients with SCD
Rare disease patient registry:	No	The Indian Rare Disease Registry was launched on 2017, but is not functional.	[PMID: 31142331]
Dedicated treatment centres:	Yes (Regional)	From: The Global Sickle Cell Disease Network
Blood transfusion availability:	Yes (Regional)	The National Blood Cell (May 2014) seeks to strengthen/set-up blood banks and blood storage centres country-wide. 89 districts still do not have blood banks. [From: WHO South-East Asia 2021 report, ISBN: 978-92-9022-851-6]
Iron chelation availability:	Yes (Regional)	Iron chelators are provded free of cost in some state. From: Thalassaemia Reports 2015, 2nd Pan-Asian Conference
Patient associations:	Yes (National)	E.g.: The Thalassaemia Society of India, Thalassaemics India

Prevalence and incidence of major haemoglobinopathies in India

Haemoglobinopathy		Comment/Info	Reference
Prevalence of β-thalassaemia carriers:	3.9 % of the population		[PMID: 27040959]
Prevalence of sickle cell disease carriers:	4.3 % of the population	Ranges between <1% and 40%.	[PMID: 26333400]
Prevalence of α-thalassaemia carriers:	12.9 % of the population		[PMID: 27189862]
Prevalence of Hb E carriers:	1 % of the population		[PMID: 27040959]
Expected incidence of β-thalassaemia:	16200 expected affected births/year		[PMID: 24672827]
Incidence of sickle cell disease:	42016 affected births/year	Median value estimated using statistical model and demographic data.
Known β-thalassaemia patients:	100000 patients		[PMID: 24672827]

Global Burden of Disease data for India

Migration data for India

Mutation frequencies in India

Overview (most frequent mutations with their observed average values and range)

α-locus

-α3.7 (type I): 62.6 %	-α4.2: 11.39 %
Poly A (AATAAA>AATA--): 3.96 %	--SEA: 3.47 %

β-locus

IVS I-5 (G>C): 56.56 % (15.71 % – 94.7 %)	IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser) (Hb Tacoma II): 16.6 %
619 bp deletion: 11.08 % (1.6 % – 23.5 %)	Asian Indian: 10.18 % (1.29 % – 30 %)

Detailed mutation frequencies

Entry ID	Locus	Region	Ethnic Group	Population Type	Sample Size	Study period (from)	Study period (to)	Reference	Comments
23604	α-locus	Maharashtra	Indian	Carriers and Patients	404	2001	2015	30489691	Frequencies are shown for alpha-globin gene mutations and were calculated by Ithanet. Samples were collected at the National Institute of Immunohaematology in Mumbai. Molecular analysis was performed for the eight common alpha gene deletions along with non-deletional alpha-thalassaemia and alpha gene triplication.
23605	β-locus	Maharashtra	Indian	Carriers	5615	2001	2015	30489691	Frequencies are shown for beta-globin gene mutations. Samples were collected atthe National Institute of Immunohaematology in Mumbai.
23606	β-locus	Punjab	Indian	Carriers	70	1992	1998	10975438	Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet.
23607	β-locus	West Bengal	Indian	Carriers	25	1992	1998	10975438	Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet.
23608	β-locus	Uttar Pradesh	Indian	Carriers	44	1992	1998	10975438	Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet.
23609	β-locus	Madhya Pradesh	Indian	Carriers	38	1992	1998	10975438	Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet.
23610	β-locus	Rajasthan	Indian	Carriers	51	1992	1998	10975438	Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet.
23611	β-locus	Maharashtra	Indian	Carriers	233	1992	1998	10975438	Frequencies are shown for beta-globin gene mutations and were calculated by Ithanet.
23612	β-locus	Country-wide	Indian	Carriers and Patients	1879	1997	2006	18294253	Frequencies are shown for beta-globin gene mutations and were re-calculated by Ithanet. Study samples included mainly homozygous/compound heterozygous β-thal, Hb S/β-thal, Hb E/β-thal and heterozygous β-thal. The regional distribution of study subjects was from the South (Kerala, Tamilnadu, Andhra Pradesh and Karnataka), the East (Bihar, Orissa, West Bengal and other eastern states), the West (Gujarat, Maharashtra, Madhya Pradesh, and Rajasthan) and the Northern parts of the country (Haryana, Punjab, and Uttar Pradesh).
23613	β-locus	Gujarat	Indian	Carriers	405	1992	1998	10975438	Frequencies are shown for beta-globin gene mutations and were recalculated by Ithanet.
23614	β-locus	Country-wide	Indian	Carriers	1237	1992	1998	10975438	Frequencies are shown for beta-globin gene mutations and were recalculated by Ithanet. Study samples represent referrals from health centers in Bombay and Ulhasnagar from Maharashtra State and Rajkot from Gujrat State.
23615	β-locus	Country-wide	Multi-ethnic	Carriers	2456	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations from samples drawn from 18 different states in India.
23616	β-locus	Maharashtra	Multi-ethnic	Carriers	748	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.
23617	β-locus	Gujarat	Multi-ethnic	Carriers	586	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.
23618	β-locus	Rajasthan	Multi-ethnic	Carriers	90	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.
23619	β-locus	Madhya Pradesh	Multi-ethnic	Carriers	141	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.
23620	β-locus	Chattisgarh	Multi-ethnic	Carriers	17	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.
23621	β-locus	Uttar Pradesh	Multi-ethnic	Carriers	125	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.
23622	β-locus	West Bengal	Multi-ethnic	Carriers	101	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.
23623	β-locus	Bihar	Multi-ethnic	Carriers	20	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.
23624	β-locus	Jharkhand	Multi-ethnic	Carriers	12	1997	2009	19254853	Frequencies are shown for beta-globin gene mutations.

Organisations in India

A list of all organisations in India stored in the ITHANET database is shown below. For more information, click on the corresponding organisation name or visit the detailed ITHANET Organisations page

Name	Department	Organisation type
Sir Ganga Ram Hospital		Medical Center

Microattributions

No microattibutions were provided for India. Please contact us, if you are willing to review existing information or provide new data.

To provide new epidemiological information and/or report mistakes, please register/log in first or use the Contact Us form.

Important Note: The relative allele frequencies presented in IthaMaps are not calculated by ITHANET, but they are extracted from the corresponding publications. ITHANET is not responsible for any mistakes in the data. Please use this information with caution! We encourage scientists that have more detailed or updated epidemiological information to contact us.

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaMaps are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

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Healthcare Policies

Health-policy	Select one Answer	Comment
Prevention programme
SCD newborn screening
Prenatal screening
Antenatal screening
Haemoglobinopathies patient registry
Rare disease patient registry
Dedicated treatment centres
Blood transfusion availability
Iron chelation availability
MRI facilities
Patient associations
Genetic counselling

Status of major Haemoglobinopathies

In Expected Incidence of β-thalassaemia and sickle cell disease please provide the number of expected affected births/year (without prevention).
In Incidence of β-thalassaemia and sickle cell disease please provide the number of affected births/year (after prevention).

Haemoglobinopathy	Provide value		Comment
Prevalence of β-thalassaemia carriers		% of the population
Prevalence of sickle cell disease carriers		% of the population
Prevalence of α-thalassaemia carriers		% of the population
Prevalence of Hb E carriers		% of the population
Prevalence of Hb C carriers		% of the population
Expected incidence of β-thalassaemia		expected affected births/year
Expected incidence of sickle cell disease		expected affected births/year
Expected incidence of α-thalassaemia		expected affected births/year
Incidence of β-thalassaemia		affected births/year
Incidence of sickle cell disease		affected births/year
Incidence of α-thalassaemia		affected births/year
Known β-thalassaemia patients		patients
Known sickle cell disease patients		patients

Mutation Frequencies

Please provide details about publications reporting mutation frequencies in the country of reference (either country-wide studies or region-specific studies).

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